Mitochondrial complex IV deficiency, nuclear type 17

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene.

Also known as MC4DN17, mitochondrial complex IV deficiency, nuclear type 17 — per MONDO

Also identified as

• DOID 0070502 per MONDO
• OMIM 619061 per MONDO
• UMLS C5436718 per MONDO